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Method of Studying Palatal Fusion using Static Organ Culture
Published on: September 19, 2015
[Epidemiology of malformations associated with cleft lip and palate: a retrospective study of 324 cases]
A de Bérail1, F Lauwers2, E Noirrit Esclassan3
1Service de chirurgie maxillo-faciale et plastique de la face, CHU de Toulouse, place du Docteur-Baylac, TSA 40031, 31059 Toulouse, France; Service de chirurgie viscérale pédiatrique, CHU de Toulouse, 31059 Toulouse, France.
Insights
Cleft palate is more frequently linked to syndromes and other malformations than cleft lip. A systematic workup is crucial for diagnosing associated conditions in newborns with clefts.
Area of Science:
- Pediatric surgery
- Medical genetics
- Epidemiology
Context:
- Cleft lip and/or palate (CL/P) are common congenital anomalies.
- CL/P can occur in isolation or as part of a syndrome with other malformations.
- Understanding the epidemiology of associated malformations is vital for comprehensive patient care.
Purpose:
- To investigate the epidemiology and distribution of malformations and syndromes associated with cleft lip and/or palate.
- To determine if the type of cleft influences the occurrence of associated anomalies.
- To identify patterns in syndromic and nonsyndromic malformations in relation to CL/P type.
Summary:
- A retrospective study of 324 patients with CL/P (1994-2011) analyzed associated malformations diagnosed within the first year of life.
- Cleft palate showed a higher association with other malformations (36.51%) and syndromic forms (34.4%) compared to cleft lip (29.9% and 3.47%, respectively).
- Nonsyndromic malformations affected the urogenital/renal systems in cleft palate cases and the cardiovascular system in cleft lip cases. Pierre-Robin sequence was the most common syndrome.
Impact:
- Findings highlight that malformation patterns are associated with cleft type, emphasizing the need for tailored diagnostic approaches.
- Underscores the importance of systematic neonatal screening for malformations in all infants with clefts.
- Facilitates early diagnosis and effective management strategies for associated conditions, improving long-term outcomes for children with CL/P.
Purpose:
Children with cleft lip and/or palate may have associated malformations, whether or not they are included in a syndromic form. This study's purpose was to provide a better understanding of the epidemiology and distribution of malformations and syndromes associated with these clefts.
Methods:
Retrospective study of 324 patients with cleft lip or palate born between 1994 and 2011. The associated malformations were diagnosed during the 1st year of life.
Results:
Cleft lip or labioalveolar clefts were less frequently associated with other malformations than cleft palate. These nonsyndromic malformations preferentially affected the urogenital and renal system in case of cleft palate (48.5%) and the cardiovascular system for clefts with a lip defect (30.5%). The syndromic forms were rare in the cleft lip and labioalveolar clefts (3.47%). In contrast, cleft palate appeared much more frequently included in a syndromic form, with 52 children out of 151 (34.4%). The Pierre-Robin sequence was the most frequent syndrome with more than 25% of the cleft palate population. The defect of the palate was associated with a higher rate of other malformations or syndromes (36.51% vs 29.9% for the entire population with a cleft) (n=324) (P<0.001).
Conclusions:
The distribution of malformations appears to be linked to the type of cleft. These findings underline the importance of conducting a systematic neonatal malformation workup in children born with clefts in order to diagnose abnormalities and organize effective and consistent management.
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